Clinical manifestations and treatment of Anderson-Fabry disease in a middle age man (RCD code: III-2B.2a)

Jurgita Plisiene, Rūta Marija Babarskienė, Dovilė Šeikytė, Eglė Ereminienė, Rokas Ereminas

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Abstract


Fabry disease is a genetic lysosomal storage disease (X-linked inheritance), also known as Anderson Fabry disease. It is a lifelong progressive disease, and it develops in patients with the lack of lysosomal enzyme alpha-galactosidase (a-Gal A) and for that reason the globotriaosylceramide(GL-3) accumulates in the endothelium of blood vessels and internal organs, then injury of various organ systems occurs, as renal insufficiency, gastrointestinal disorders, specific changes of the eye fundus, injury of the coronary arteries, hypertrophy of the left ventricle, cardiomyopathy, disorders of the nervous system, specific skin rashes (known as angioceratoma), etc. Therefore, patients with Fabry disease may occur in the practice of each speciality physician. A minor disease course, that occurs in older patients, mainly affects the cardiovascular system and may be undiagnosed. JRCD 2014; 2 (1): 15–17

Keywords


Fabry disease, left ventricular hypertrophy, alpha‑galactosidase

References


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DOI: http://dx.doi.org/10.20418%2Fjrcd.vol2no1.162

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